M Scheel, M Abegg, LJ Lanyon, A Mattman… - Neurology, 2011 - AAN Enterprises We investigated white matter microstructural integrity in an adult patient with Niemann-Pick disease type C (NPC) and compared this to an age-matched healthy control group. 2 We used an advanced DTI protocol in a 3-T MRI scanner and the same voxel-based analysis tools described by ... Related articles - All 3 versions
S Zhou, C Davidson, R McGlynn… - The American journal …, 2011 - ncbi.nlm.nih.gov Niemann-Pick disease type C (NPC) is a severe neurovisceral lysosomal storage disorder caused by defects in NPC1 or NPC2 proteins. Although numerous studies support the primacy of cholesterol storage, neurons of double-mutant mice lacking both NPC1 and an enzyme required for ... Related articles - All 3 versions
X Jiang, R Sidhu, FD Porter, NM Yanjanin… - Journal of Lipid …, 2011 - ASBMB Niemann-Pick type C1 (NPC1) disease is a rare, progressively fatal neurodegenerative disease for which there are no FDA-approved therapies. A major barrier to developing new therapies for this disorder has been the lack of a sensitive and noninvasive diagnostic test. ... Related articles - All 3 versions
O Piguet, GM Halliday, WGJ Reid, B Casey… - Neurology, 2011 - AAN Enterprises Background: Neuropathology of frontotemporal lobar degeneration is variable and relationship between the pathology and the clinical presentation remains uncertain. Abnormal deposits of hyperphosphorylated and ubiquitinated tau protein are present in 30% of cases, which ... Cited by 4 - Related articles - All 3 versions
M Patterson, P Bauer, H Klunemann, F Sedel… - 2011 - discovery.ucl.ac.uk ... ZOOM: Observational genetic screening study of Niemann-PickDisease Type C in adults with neurological and psychiatric signs. ... Title: ZOOM: Observational genetic screening study of Niemann-PickDisease Type C in adults with neurological and psychiatric signs. ... Cached - All 2 versions
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